V11L (p.Val11Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
V11L (p.Val11Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- gnomAD 2-227164757-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.15
- CADD 4.96
- PolyPhen-2 0.00
- SIFT 0.96
- Population evidence available
- Structural context available
- Literature evidence available